Margaret L P Adam, MD

Genetics, Differences in Sex Development, Prenatal Diagnosis and Treatment

On staff since September 2009

Academic Title: Professor

Research Center: Center for Clinical and Translational Research

"What we do in genetics is a lot of diagnostics, putting things together and being able to provide a family with an answer for why their child has specific issues. It's rewarding to provide those answers and give parents an idea of what they can expect in the future. These families want answers, and we work to provide those answers for them."

  • Margaret L.P. Adam, MD, is an attending physician at Seattle Children's Hospital and a professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Adam's clinical interests include the diagnosis and management of infants, children, and adolescents with a variety of genetic conditions.

    Dr. Adam has a special interest in Mowat-Wilson syndrome, for which she has conducted clinical research in the past. She is currently involved as the primary geneticist in the Multidisciplinary Differences in Sex Development (DSD) clinic at Seattle Children's Hospital and she recently joined the Multidisciplinary 22q11 Deletion syndrome clinic. She also provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Her current clinical research projects include working as a dysmorphologist on the Autoimmune Diseases in Pregnancy Project with the Organization of Teratology Information Specialists (OTIS) and on the Collaboration to Establish the Prevalence of Fetal Alcohol Spectrum Disorders in association with the University of California, San Diego.

    • Andrej Seattle, WA 02.20.20

      I am so happy Dr. Adam is part of our daughter's treatment as she is genuinely concerned, helpful, understanding and extremely knowledgeable. I trust her advice and know she has my daughter's and family's interest at heart. I just wish she was our pediatrician!

  • Award Name Award Description Awarded By Award Date
    SEATTLE'S TOP DOCTOR - 2019 Seattle Magazine 2019
    SEATTLE'S TOP DOCTOR - 2018 Seattle Magazine 2018
    SEATTLE'S TOP DOCTOR - 2017 Seattle Magazine 2017
    Seattle's Top Doctors, Pediatric Genetics Seattle Magazine 2014
    Seattle's Top Doctors, Pediatric Genetics Seattle Magazine 2013
    Medical Expert of the Month for November/December Organization of Teratology Information Specialists 2011
    John M. Opitz Young Investigator Award 2007
  • Other Publications

    • Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
      "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
      26097173 American journal of medical genetics. Part A, 2015 July : 167(7)1682-3
    • Hoyme HE, Hoyme DB, Elliott AJ, Blankenship J, Kalberg WO, Buckley D, Abdul-Rahman O, Adam MP, Robinson LK, Manning M, Bezuidenhout H, Jones KL, May PA
      A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.
      25711340 American journal of medical genetics. Part A, 2015 April : 167A(4)752-5 PMCID:PMC4507499
    • Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB
      Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
      22965664 American journal of medical genetics. Part A, 2012 Oct. : 158A(10)2393-406 PMCID:PMC3448816
    • Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
      Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
      21465651 American journal of medical genetics. Part A, 2011 May : 155A(5)1021-32
    • Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG
      Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
      20206336 American journal of human genetics, 2010 March 12 : 86(3)454-61 PMCID:PMC2833380
    • Adam MP, Justice AN, Bean LJ, Fernhoff PM
      Mowat-Wilson syndrome with craniosynostosis: a case report.
      18076118 American journal of medical genetics. Part A, 2008 Jan. 15 : 146A(2)245-6

  • Presentations Title Event Location Date
    "Kleefstra Syndrome (9q34.3 Microdeletion Syndrome)." American College of Medical Genetics Charlotte, NC March 30, 2012
    "Genomic Technologies" Division of Endocrinology, Seattle Children's Hospital Seattle, WA Jan. 24, 2012
    "Evolving knowledge of the teratogenicity of medications in human pregnancy." Pediatric Grand Rounds, Seattle Children's Hospital Seattle, WA July 28, 2011
    "Prenatal Diagnosis of Disorders of Sex Development." Disorders of Sex Development: Clinical, Ethical and Legal Perspectives CME Seattle, WA July 10, 2011
    "Clinical Utility of Array Comparative Genomic Hybridization (aCGH)." Genetic Providers Group Education Meeting Kent, WA Oct. 1, 2010
    "The 22q11 Deletion Syndrome" 20th Cleft L ip and Palate Symposium Atlanta, GA Oct. 25, 2008
    "Homozygous Alpha-Thalassemia and Birth Defects in Humans: A Possible Hypoxic Mechanism" 48th Annual Meeting of the Teratology Society Monterey, CA July 29, 2008
    "Oncogenes and Human Malformation Syndromes." 38th Annual Environmental Mutagen Society Meeting Atlanta, GA Oct. 24, 2007
    "Genetic Counseling and Prenatal Diagnosis for Families with Primary Immunodeficiency Syndromes" Emory University School of Medicine Atlanta, GA May 5, 2007
    "Cardinal Signs and Symptoms of Mowat-Wilson Syndrome." American College of Medical Genetics Nashville, TN March 25, 2007
    "On the Horizon: Array Comparative Genomic Hybridization." Georgia Birth Defects Surveillance Advisory Committee Atlanta, GA April 28, 2006
    "Approach to the Dysmorphic Newborn." Neonatology 2006 Atlanta, GA March 31, 2006
    "The Genetics of Facial Clefting." Georgia Speech-Language-Hearing Association Atlanta, GA March 25, 2006
  • Grant Title Grantor Amount Award Date
    Fetal Alcohol Syndrome-South Africa $5,000-10,000/year depending on study needs 2013 - 2018
    FASER University of New Mexico, Albuquerque $5,000-10,000/year, depending on study needs 2010 - 2016
    Autoimmune Diseases in Pregnancy Study University of California $10,000-20,000/year, depending on study needs 2010 - 2017


Board Certification(s)

Clinical Genetics (MD)

Medical/Professional School

Stanford University, Stanford


Pediatrics, Lucile Salter Packard Children's Hospital at Stanford University, Palo Alto
Medical Biochemical Genetics, Stanford University - Dept of Medical Genetics, Stanford

Clinical Interests

Dysmorphology, Mowat-Wilson Syndrome, Teratology